Q68CQ7 (GL8D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glycosyltransferase 8 domain-containing protein 1
EC=2.4.1.-

Gene names

Name:	GLT8D1
Synonyms:	GALA4A
ORF Names:	AD-017, MSTP137, UNQ572/PRO1134

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	371 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Single-pass type II membrane protein Potential.
Sequence similarities	Belongs to the glycosyltransferase 8 family.
Sequence caution	The sequence AAQ13652.1 differs from that shown. Reason: Frameshift at positions 26, 52, 66, 75, 85, 300, 309, 315, 317 and 349.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from direct assay. Source: HPA
Molecular_function	transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q68CQ7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q68CQ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     216-259: YNYIGYLDYK...LTEWKRQNIT → VNCLPNTPLP...FIPNLKPAFL
     260-371: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 371	371	Glycosyltransferase 8 domain-containing protein 1		PRO_0000288528
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	29 – 371	343	Lumenal Potential
Amino acid modifications
	Glycosylation	249	1	N-linked (GlcNAc...) Ref.8
	Glycosylation	257	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	216 – 259	44	YNYIG…RQNIT → VNCLPNTPLPTILFNGKRLQ IQGTLLLQFTLPNHFIPNLK PAFL in isoform 2.		VSP_025705
	Alternative sequence	260 – 371	112	Missing in isoform 2.		VSP_025706
	Natural variant	210	1	R → H. Ref.7 Corresponds to variant rs2276812 [ dbSNP | Ensembl ].		VAR_032443
Experimental info
	Sequence conflict	50	1	F → C in AAQ13652. Ref.7
	Sequence conflict	201	1	D → G in CAH18681. Ref.5
	Sequence conflict	301	1	P → L in AAQ13652. Ref.7
	Sequence conflict	349	1	W → G in AAQ13652. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: 43492FB4E678F3D0	FASTA	371	41,935
	10 20 30 40 50 60 MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF VPNALRHAVD 70 80 90 100 110 120 GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV TLNNTADHLR SWLNSDSLKS 130 140 150 160 170 180 IRYKIVNFDP KLLEGKVKED PDQGESMKPL TFARFYLPIL VPSAKKAIYM DDDVIVQGDI 190 200 210 220 230 240 LALYNTALKP GHAAAFSEDC DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS 250 260 270 280 290 300 FNPGVFVANL TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID 310 320 330 340 350 360 PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY IPDPTGKFNL 370 IRRYTEISNI K
	Isoform 2 [UniParc]. Checksum: EF8FB0768DA499AC	FASTA	259	28,544
	10 20 30 40 50 60 MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF VPNALRHAVD 70 80 90 100 110 120 GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV TLNNTADHLR SWLNSDSLKS 130 140 150 160 170 180 IRYKIVNFDP KLLEGKVKED PDQGESMKPL TFARFYLPIL VPSAKKAIYM DDDVIVQGDI 190 200 210 220 230 240 LALYNTALKP GHAAAFSEDC DSASTKVVIR GAGNQVNCLP NTPLPTILFN GKRLQIQGTL 250 LLQFTLPNHF IPNLKPAFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"gala4a, glycosyltransferase." Steffensen R., Bennett E.P. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adrenal gland.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Ovary and Teratocarcinoma.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Fetus.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]	Sheng H., Qin B.M., Liu Y.Q., Zhao B., Liu B., Wang X.Y., Hui R.T. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-210. Tissue: Aorta.
[8]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249, MASS SPECTROMETRY. Tissue: Liver.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ271710 mRNA. Translation: CAC19666.1. AF157318 mRNA. Translation: AAF67484.1. AY358579 mRNA. Translation: AAQ88942.1. AK027517 mRNA. Translation: BAB55170.1. AK075031 mRNA. Translation: BAC11363.1. CR749821 mRNA. Translation: CAH18681.1. BC119670 mRNA. Translation: AAI19671.1. BC119671 mRNA. Translation: AAI19672.1. AF175227 mRNA. Translation: AAQ13652.1. Frameshift.
IPI	IPI00020470. IPI00384012.
RefSeq	NP_001010983.1. NM_001010983.1. NP_060916.1. NM_018446.2. NP_690909.1. NM_152932.1.
UniGene	Hs.297304.
3D structure databases
ProteinModelPortal	Q68CQ7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000266014.
Protein family/group databases
CAZy	GT8. Glycosyltransferase Family 8.
PTM databases
PhosphoSite	Q68CQ7.
Polymorphism databases
DMDM	152125896.
Proteomic databases
PaxDb	Q68CQ7.
PRIDE	Q68CQ7.
Protocols and materials databases
DNASU	55830.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266014; ENSP00000266014; ENSG00000016864. ENST00000394783; ENSP00000378263; ENSG00000016864. ENST00000407584; ENSP00000385730; ENSG00000016864. ENST00000478968; ENSP00000419612; ENSG00000016864. ENST00000491606; ENSP00000418853; ENSG00000016864.
GeneID	55830.
KEGG	hsa:55830.
UCSC	uc003dfi.4. human.
Organism-specific databases
CTD	55830.
GeneCards	GC03M052704.
HGNC	HGNC:24870. GLT8D1.
HPA	HPA010588.
neXtProt	NX_Q68CQ7.
PharmGKB	PA134947079.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74598.
HOGENOM	HOG000112730.
HOVERGEN	HBG055240.
InParanoid	Q68CQ7.
OMA	MSFRKVN.
OrthoDB	EOG46MBJS.
PhylomeDB	Q68CQ7.
Gene expression databases
ArrayExpress	Q68CQ7.
Bgee	Q68CQ7.
CleanEx	HS_GLT8D1.
Genevestigator	Q68CQ7.
Family and domain databases
InterPro	IPR002495. Glyco_trans_8. [Graphical view]
Pfam	PF01501. Glyco_transf_8. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GLT8D1. human.
GenomeRNAi	55830.
NextBio	61037.

Entry information

Entry name

GL8D1_HUMAN

Accession

Primary (citable) accession number: Q68CQ7
Secondary accession number(s): Q7Z4D1, Q8N2J6, Q9P0I5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	April 3, 2013
This is version 66 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.